ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1805G>A (p.Gly602Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795783 SCV005418012 uncertain significance Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 criteria provided, single submitter clinical testing PM2_Supporting+PP3+PP4+PM6
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004821345 SCV005442593 uncertain significance Autosomal dominant Alport syndrome 2024-12-25 criteria provided, single submitter research The COL4A3 c.1805G>A:p.(Gly602Asp) heterozygous variant is predicted deleterious and not found in gnomAD. It was detected in an individual with moderate-severe HL.

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